MT-RNR1[HGNC][GeneCards][NCBI] 基因种类(locus group) non-coding RNA 同源简称(alias symbol) 基因家族代码(gene_family_id) 848[HGNC][GenScript] omim代码 561000 entrez码 4549[Vega] ensembl基因码 ENSG00000211459[Ensembl] 基因家族(gene family) ...
每个mtDNA分子编码两类rRNA(12S和16S rRNA),22种tRNA及13条与细胞氧化磷酸化(OXPHOS)有关的多肽链,这13个多肽链与核DNA编码的其他蛋白质一起共同组成呼吸链。MTRNR1即为mtDNA 12S rRNA,其基因全长953bp。 mtDNA有其很独特的遗传特点:①遗传方式为母系遗传。②mtDNA的基因排列紧凑,没有内含子,而且各基因之间还...
The invention relates to methods and kits for determining the presence of a mutation selected from the group consisting of 1555A>G and 1494C>T in human Mitochondrially Encoded 12S RNA (MTRNR1 ) gene in a sample from a subject, comprising, , amplifying at least part of the MTRNR1 gene ...
[ 关键词]耳聋;M T—RN Rl 基因;突变;氨基糖苷类药物[中图分类号]R764[ 文献标识码]A[文章编号]M utati o吣i n M T-瑚呵R1gene锄ong pati ents喇th dm gdeafne鼹i nU咖qi采集新疆乌鲁木齐地区人群的临床资料,M T—RN Rl1007.3434( 2013) 05-298-05W AN G Xi ao(ShaIl ghai zhongyouM edi ...
摘要: Background Leber's hereditary optic neuropathy (LHON) associated with mutations in mitochondrial DNA (mtDNA) typically manifests only optic nerve involvement but in some patients may develop...关键词: LHON, Penetrance, Intellectual disability, Mitochondrial DNA, MTRNR, M.3460G  &#x...
Method: Studies describing the prevalence/incidence of MT-RNR1 gene mutations (A1555G, C1494T, A7445G) in the population. Relevant studies screening for presence for MT-RNR1 in patients receiving aminoglycoside therapy were included. Results: Twenty-two articles out of 67 full papers and 206s...
Gene(s):MT-RNR1, MT-TS1 Mutation(s): m.1555A>G, m.1494C>T, m.7445A>G, m.7511T>C Homoplasmic (occasionally heteroplasmic) Prevalence: 1 in 500 for m.1555A>G[40,41] Maternally inherited SNHL is commonly associated with mutations in severalmitochondrial genes:MT-RNR1,MT-TS1,MT...
MTHFD2 expression was decreased by siRNAs in HAEC and gene expression changes were determined with and without oxPAPC. To determine the hier- archical position of MTHFD2 within the subnetwork, we addi- tionally silenced PSAT1, one of its direct downstream nodes (Fig. 3a). Expression of MT...
The mutation frequencies of GJB2, GJB3, SLC26A4 and MT-RNR1 of patients with severe to profound sensorineural hearing loss in northwest China 来自 掌桥科研 喜欢 0 阅读量: 21 作者: Liu, Xiao-WenWang, Jian-ChaoWang, Su-YangLi, Shu-JuanZhu, Yi-MingDing, Wen-JuanXu, Chen-YangDuan, ...
Altered expression of 12S/MT-RNR1, MT-CO2/COX2, and MT-ATP6 mitochondrial genes in prostate cancer. BACKGROUND: Prostate cancer is one of the commonest cancers worldwide and is responsible for nearly 6% of all male cancer deaths. Despite this relevance, t... J Abril,ML De-Heredia,L ...